Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations

Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. <i<FOXC2</i< mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases <i<FOXC2</i< mRNA stability....
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Gespeichert in:

Autor*in:	Sara Missaglia [verfasserIn] Daniela Tavian [verfasserIn] Sandro Michelini [verfasserIn] Paolo Enrico Maltese [verfasserIn] Andrea Bonanomi [verfasserIn] Matteo Bertelli [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	Lymphedema-distichiasis syndrome FOXC2 lncRNA FOXC2-AS1 gene expression confocal analysis nuclear aggregates

Übergeordnetes Werk:	In: Genes - MDPI AG, 2010, 12(2021), 5, p 650
Übergeordnetes Werk:	volume:12 ; year:2021 ; number:5, p 650

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/genes12050650

Katalog-ID:	DOAJ057481202

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520			\|a Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. <i<FOXC2</i< mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases <i<FOXC2</i< mRNA stability. No studies have evaluated <i<FOXC2</i< and FOXC2-AS1 blood expression in LD and healthy subjects. Here, we show that <i<FOXC2</i< and FOXC-AS1 expression levels were similar in both controls and patients, and a significantly higher amount of both RNAs was observed in females. A positive correlation between <i<FOXC2</i< and FOXC2-AS1 expression was found in both controls and patients, excluding those with frameshift mutations. In these patients, the FOXC2-AS1/<i<FOXC2</i< ratio was about 1:1, while it was higher in controls and patients carrying other types of mutations. The overexpression or silencing of FOXC2-AS1 determined a significant increase or reduction in FOXC2 wild-type and frameshift mutant proteins, respectively. Moreover, confocal and bioinformatic analysis revealed that these variations caused the formation of nuclear proteins aggregates also involving DNA. In conclusion, patients with frameshift mutations presented lower values of the FOXC2-AS1/<i<FOXC2</i< ratio, due to a decrease in FOXC2-AS1 expression. The imbalance between <i<FOXC2</i< mRNA and its lncRNA could represent a molecular mechanism to reduce the amount of FOXC2 misfolded proteins, protecting cells from damage.
650		4	\|a Lymphedema-distichiasis syndrome
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allfields	10.3390/genes12050650 doi (DE-627)DOAJ057481202 (DE-599)DOAJeb7efa2c6d4c4cefb69030132f2f1a9c DE-627 ger DE-627 rakwb eng QH426-470 Sara Missaglia verfasserin aut Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. <i<FOXC2</i< mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases <i<FOXC2</i< mRNA stability. No studies have evaluated <i<FOXC2</i< and FOXC2-AS1 blood expression in LD and healthy subjects. Here, we show that <i<FOXC2</i< and FOXC-AS1 expression levels were similar in both controls and patients, and a significantly higher amount of both RNAs was observed in females. A positive correlation between <i<FOXC2</i< and FOXC2-AS1 expression was found in both controls and patients, excluding those with frameshift mutations. In these patients, the FOXC2-AS1/<i<FOXC2</i< ratio was about 1:1, while it was higher in controls and patients carrying other types of mutations. The overexpression or silencing of FOXC2-AS1 determined a significant increase or reduction in FOXC2 wild-type and frameshift mutant proteins, respectively. Moreover, confocal and bioinformatic analysis revealed that these variations caused the formation of nuclear proteins aggregates also involving DNA. In conclusion, patients with frameshift mutations presented lower values of the FOXC2-AS1/<i<FOXC2</i< ratio, due to a decrease in FOXC2-AS1 expression. The imbalance between <i<FOXC2</i< mRNA and its lncRNA could represent a molecular mechanism to reduce the amount of FOXC2 misfolded proteins, protecting cells from damage. Lymphedema-distichiasis syndrome FOXC2 lncRNA FOXC2-AS1 gene expression confocal analysis nuclear aggregates Genetics Daniela Tavian verfasserin aut Sandro Michelini verfasserin aut Paolo Enrico Maltese verfasserin aut Andrea Bonanomi verfasserin aut Matteo Bertelli verfasserin aut In Genes MDPI AG, 2010 12(2021), 5, p 650 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:5, p 650 https://doi.org/10.3390/genes12050650 kostenfrei https://doaj.org/article/eb7efa2c6d4c4cefb69030132f2f1a9c kostenfrei https://www.mdpi.com/2073-4425/12/5/650 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 5, p 650
spelling	10.3390/genes12050650 doi (DE-627)DOAJ057481202 (DE-599)DOAJeb7efa2c6d4c4cefb69030132f2f1a9c DE-627 ger DE-627 rakwb eng QH426-470 Sara Missaglia verfasserin aut Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. <i<FOXC2</i< mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases <i<FOXC2</i< mRNA stability. No studies have evaluated <i<FOXC2</i< and FOXC2-AS1 blood expression in LD and healthy subjects. Here, we show that <i<FOXC2</i< and FOXC-AS1 expression levels were similar in both controls and patients, and a significantly higher amount of both RNAs was observed in females. A positive correlation between <i<FOXC2</i< and FOXC2-AS1 expression was found in both controls and patients, excluding those with frameshift mutations. In these patients, the FOXC2-AS1/<i<FOXC2</i< ratio was about 1:1, while it was higher in controls and patients carrying other types of mutations. The overexpression or silencing of FOXC2-AS1 determined a significant increase or reduction in FOXC2 wild-type and frameshift mutant proteins, respectively. Moreover, confocal and bioinformatic analysis revealed that these variations caused the formation of nuclear proteins aggregates also involving DNA. In conclusion, patients with frameshift mutations presented lower values of the FOXC2-AS1/<i<FOXC2</i< ratio, due to a decrease in FOXC2-AS1 expression. The imbalance between <i<FOXC2</i< mRNA and its lncRNA could represent a molecular mechanism to reduce the amount of FOXC2 misfolded proteins, protecting cells from damage. Lymphedema-distichiasis syndrome FOXC2 lncRNA FOXC2-AS1 gene expression confocal analysis nuclear aggregates Genetics Daniela Tavian verfasserin aut Sandro Michelini verfasserin aut Paolo Enrico Maltese verfasserin aut Andrea Bonanomi verfasserin aut Matteo Bertelli verfasserin aut In Genes MDPI AG, 2010 12(2021), 5, p 650 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:5, p 650 https://doi.org/10.3390/genes12050650 kostenfrei https://doaj.org/article/eb7efa2c6d4c4cefb69030132f2f1a9c kostenfrei https://www.mdpi.com/2073-4425/12/5/650 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 5, p 650
allfields_unstemmed	10.3390/genes12050650 doi (DE-627)DOAJ057481202 (DE-599)DOAJeb7efa2c6d4c4cefb69030132f2f1a9c DE-627 ger DE-627 rakwb eng QH426-470 Sara Missaglia verfasserin aut Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. <i<FOXC2</i< mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases <i<FOXC2</i< mRNA stability. No studies have evaluated <i<FOXC2</i< and FOXC2-AS1 blood expression in LD and healthy subjects. Here, we show that <i<FOXC2</i< and FOXC-AS1 expression levels were similar in both controls and patients, and a significantly higher amount of both RNAs was observed in females. A positive correlation between <i<FOXC2</i< and FOXC2-AS1 expression was found in both controls and patients, excluding those with frameshift mutations. In these patients, the FOXC2-AS1/<i<FOXC2</i< ratio was about 1:1, while it was higher in controls and patients carrying other types of mutations. The overexpression or silencing of FOXC2-AS1 determined a significant increase or reduction in FOXC2 wild-type and frameshift mutant proteins, respectively. Moreover, confocal and bioinformatic analysis revealed that these variations caused the formation of nuclear proteins aggregates also involving DNA. In conclusion, patients with frameshift mutations presented lower values of the FOXC2-AS1/<i<FOXC2</i< ratio, due to a decrease in FOXC2-AS1 expression. The imbalance between <i<FOXC2</i< mRNA and its lncRNA could represent a molecular mechanism to reduce the amount of FOXC2 misfolded proteins, protecting cells from damage. Lymphedema-distichiasis syndrome FOXC2 lncRNA FOXC2-AS1 gene expression confocal analysis nuclear aggregates Genetics Daniela Tavian verfasserin aut Sandro Michelini verfasserin aut Paolo Enrico Maltese verfasserin aut Andrea Bonanomi verfasserin aut Matteo Bertelli verfasserin aut In Genes MDPI AG, 2010 12(2021), 5, p 650 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:5, p 650 https://doi.org/10.3390/genes12050650 kostenfrei https://doaj.org/article/eb7efa2c6d4c4cefb69030132f2f1a9c kostenfrei https://www.mdpi.com/2073-4425/12/5/650 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 5, p 650
allfieldsGer	10.3390/genes12050650 doi (DE-627)DOAJ057481202 (DE-599)DOAJeb7efa2c6d4c4cefb69030132f2f1a9c DE-627 ger DE-627 rakwb eng QH426-470 Sara Missaglia verfasserin aut Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. <i<FOXC2</i< mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases <i<FOXC2</i< mRNA stability. No studies have evaluated <i<FOXC2</i< and FOXC2-AS1 blood expression in LD and healthy subjects. Here, we show that <i<FOXC2</i< and FOXC-AS1 expression levels were similar in both controls and patients, and a significantly higher amount of both RNAs was observed in females. A positive correlation between <i<FOXC2</i< and FOXC2-AS1 expression was found in both controls and patients, excluding those with frameshift mutations. In these patients, the FOXC2-AS1/<i<FOXC2</i< ratio was about 1:1, while it was higher in controls and patients carrying other types of mutations. The overexpression or silencing of FOXC2-AS1 determined a significant increase or reduction in FOXC2 wild-type and frameshift mutant proteins, respectively. Moreover, confocal and bioinformatic analysis revealed that these variations caused the formation of nuclear proteins aggregates also involving DNA. In conclusion, patients with frameshift mutations presented lower values of the FOXC2-AS1/<i<FOXC2</i< ratio, due to a decrease in FOXC2-AS1 expression. The imbalance between <i<FOXC2</i< mRNA and its lncRNA could represent a molecular mechanism to reduce the amount of FOXC2 misfolded proteins, protecting cells from damage. Lymphedema-distichiasis syndrome FOXC2 lncRNA FOXC2-AS1 gene expression confocal analysis nuclear aggregates Genetics Daniela Tavian verfasserin aut Sandro Michelini verfasserin aut Paolo Enrico Maltese verfasserin aut Andrea Bonanomi verfasserin aut Matteo Bertelli verfasserin aut In Genes MDPI AG, 2010 12(2021), 5, p 650 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:5, p 650 https://doi.org/10.3390/genes12050650 kostenfrei https://doaj.org/article/eb7efa2c6d4c4cefb69030132f2f1a9c kostenfrei https://www.mdpi.com/2073-4425/12/5/650 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 5, p 650
allfieldsSound	10.3390/genes12050650 doi (DE-627)DOAJ057481202 (DE-599)DOAJeb7efa2c6d4c4cefb69030132f2f1a9c DE-627 ger DE-627 rakwb eng QH426-470 Sara Missaglia verfasserin aut Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. <i<FOXC2</i< mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases <i<FOXC2</i< mRNA stability. No studies have evaluated <i<FOXC2</i< and FOXC2-AS1 blood expression in LD and healthy subjects. Here, we show that <i<FOXC2</i< and FOXC-AS1 expression levels were similar in both controls and patients, and a significantly higher amount of both RNAs was observed in females. A positive correlation between <i<FOXC2</i< and FOXC2-AS1 expression was found in both controls and patients, excluding those with frameshift mutations. In these patients, the FOXC2-AS1/<i<FOXC2</i< ratio was about 1:1, while it was higher in controls and patients carrying other types of mutations. The overexpression or silencing of FOXC2-AS1 determined a significant increase or reduction in FOXC2 wild-type and frameshift mutant proteins, respectively. Moreover, confocal and bioinformatic analysis revealed that these variations caused the formation of nuclear proteins aggregates also involving DNA. In conclusion, patients with frameshift mutations presented lower values of the FOXC2-AS1/<i<FOXC2</i< ratio, due to a decrease in FOXC2-AS1 expression. The imbalance between <i<FOXC2</i< mRNA and its lncRNA could represent a molecular mechanism to reduce the amount of FOXC2 misfolded proteins, protecting cells from damage. Lymphedema-distichiasis syndrome FOXC2 lncRNA FOXC2-AS1 gene expression confocal analysis nuclear aggregates Genetics Daniela Tavian verfasserin aut Sandro Michelini verfasserin aut Paolo Enrico Maltese verfasserin aut Andrea Bonanomi verfasserin aut Matteo Bertelli verfasserin aut In Genes MDPI AG, 2010 12(2021), 5, p 650 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:5, p 650 https://doi.org/10.3390/genes12050650 kostenfrei https://doaj.org/article/eb7efa2c6d4c4cefb69030132f2f1a9c kostenfrei https://www.mdpi.com/2073-4425/12/5/650 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 5, p 650
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callnumber-first	Q - Science
author	Sara Missaglia
spellingShingle	Sara Missaglia misc QH426-470 misc Lymphedema-distichiasis syndrome misc FOXC2 misc lncRNA FOXC2-AS1 misc gene expression misc confocal analysis misc nuclear aggregates misc Genetics Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations
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topic_title	QH426-470 Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations Lymphedema-distichiasis syndrome FOXC2 lncRNA FOXC2-AS1 gene expression confocal analysis nuclear aggregates
topic	misc QH426-470 misc Lymphedema-distichiasis syndrome misc FOXC2 misc lncRNA FOXC2-AS1 misc gene expression misc confocal analysis misc nuclear aggregates misc Genetics
topic_unstemmed	misc QH426-470 misc Lymphedema-distichiasis syndrome misc FOXC2 misc lncRNA FOXC2-AS1 misc gene expression misc confocal analysis misc nuclear aggregates misc Genetics
topic_browse	misc QH426-470 misc Lymphedema-distichiasis syndrome misc FOXC2 misc lncRNA FOXC2-AS1 misc gene expression misc confocal analysis misc nuclear aggregates misc Genetics
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title	Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations
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title_full	Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations
author_sort	Sara Missaglia
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author_browse	Sara Missaglia Daniela Tavian Sandro Michelini Paolo Enrico Maltese Andrea Bonanomi Matteo Bertelli
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title_sort	imbalance between expression of foxc2 and its lncrna in lymphedema-distichiasis caused by frameshift mutations
callnumber	QH426-470
title_auth	Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations
abstract	Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. <i<FOXC2</i< mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases <i<FOXC2</i< mRNA stability. No studies have evaluated <i<FOXC2</i< and FOXC2-AS1 blood expression in LD and healthy subjects. Here, we show that <i<FOXC2</i< and FOXC-AS1 expression levels were similar in both controls and patients, and a significantly higher amount of both RNAs was observed in females. A positive correlation between <i<FOXC2</i< and FOXC2-AS1 expression was found in both controls and patients, excluding those with frameshift mutations. In these patients, the FOXC2-AS1/<i<FOXC2</i< ratio was about 1:1, while it was higher in controls and patients carrying other types of mutations. The overexpression or silencing of FOXC2-AS1 determined a significant increase or reduction in FOXC2 wild-type and frameshift mutant proteins, respectively. Moreover, confocal and bioinformatic analysis revealed that these variations caused the formation of nuclear proteins aggregates also involving DNA. In conclusion, patients with frameshift mutations presented lower values of the FOXC2-AS1/<i<FOXC2</i< ratio, due to a decrease in FOXC2-AS1 expression. The imbalance between <i<FOXC2</i< mRNA and its lncRNA could represent a molecular mechanism to reduce the amount of FOXC2 misfolded proteins, protecting cells from damage.
abstractGer	Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. <i<FOXC2</i< mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases <i<FOXC2</i< mRNA stability. No studies have evaluated <i<FOXC2</i< and FOXC2-AS1 blood expression in LD and healthy subjects. Here, we show that <i<FOXC2</i< and FOXC-AS1 expression levels were similar in both controls and patients, and a significantly higher amount of both RNAs was observed in females. A positive correlation between <i<FOXC2</i< and FOXC2-AS1 expression was found in both controls and patients, excluding those with frameshift mutations. In these patients, the FOXC2-AS1/<i<FOXC2</i< ratio was about 1:1, while it was higher in controls and patients carrying other types of mutations. The overexpression or silencing of FOXC2-AS1 determined a significant increase or reduction in FOXC2 wild-type and frameshift mutant proteins, respectively. Moreover, confocal and bioinformatic analysis revealed that these variations caused the formation of nuclear proteins aggregates also involving DNA. In conclusion, patients with frameshift mutations presented lower values of the FOXC2-AS1/<i<FOXC2</i< ratio, due to a decrease in FOXC2-AS1 expression. The imbalance between <i<FOXC2</i< mRNA and its lncRNA could represent a molecular mechanism to reduce the amount of FOXC2 misfolded proteins, protecting cells from damage.
abstract_unstemmed	Forkhead-box C2 (FOXC2) is a transcription factor involved in lymphatic system development. <i<FOXC2</i< mutations cause Lymphedema-distichiasis syndrome (LD). Recently, a natural antisense was identified, called lncRNA FOXC2-AS1, which increases <i<FOXC2</i< mRNA stability. No studies have evaluated <i<FOXC2</i< and FOXC2-AS1 blood expression in LD and healthy subjects. Here, we show that <i<FOXC2</i< and FOXC-AS1 expression levels were similar in both controls and patients, and a significantly higher amount of both RNAs was observed in females. A positive correlation between <i<FOXC2</i< and FOXC2-AS1 expression was found in both controls and patients, excluding those with frameshift mutations. In these patients, the FOXC2-AS1/<i<FOXC2</i< ratio was about 1:1, while it was higher in controls and patients carrying other types of mutations. The overexpression or silencing of FOXC2-AS1 determined a significant increase or reduction in FOXC2 wild-type and frameshift mutant proteins, respectively. Moreover, confocal and bioinformatic analysis revealed that these variations caused the formation of nuclear proteins aggregates also involving DNA. In conclusion, patients with frameshift mutations presented lower values of the FOXC2-AS1/<i<FOXC2</i< ratio, due to a decrease in FOXC2-AS1 expression. The imbalance between <i<FOXC2</i< mRNA and its lncRNA could represent a molecular mechanism to reduce the amount of FOXC2 misfolded proteins, protecting cells from damage.
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container_issue	5, p 650
title_short	Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations
url	https://doi.org/10.3390/genes12050650 https://doaj.org/article/eb7efa2c6d4c4cefb69030132f2f1a9c https://www.mdpi.com/2073-4425/12/5/650 https://doaj.org/toc/2073-4425
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In conclusion, patients with frameshift mutations presented lower values of the FOXC2-AS1/<i<FOXC2</i< ratio, due to a decrease in FOXC2-AS1 expression. 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Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations

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